Prader-Willi syndrome

A guide to assessment and diagnosis

Prader-Willi syndrome affects children’s development and growth. If your child has Prader-Willi syndrome, it’s worth exploring services and support options. Early intervention can make a big difference.

What is Prader-Willi syndrome?

Prader-Willi syndrome is a genetic disorder that affects development and growth.

Prader-Willi syndrome is caused by missing genes on chromosome 15. This problem with the chromosome happens by chance.

This syndrome is a rare condition, which happens in 1 in 10 000-25 000 births. It affects boys and girls equally.

Signs and symptoms of Prader-Willi syndrome

Physical characteristics
Children with Prader-Willi syndrome are typically floppy when they’re newborns. They have feeding difficulties because their weak muscles make it hard for them to suck.

Low muscle tone also means that it takes children with Prader-Willi syndrome longer to reach developmental milestones like sitting, crawling and walking.

Other physical signs and symptoms can include:

facial features like a narrow bridge of the nose, a high and narrow forehead, a thin upper lip and downturned mouth, almond-shaped eyes, and eyes that look in different directions (strabismus)

failure to thrive in infancy

obesity from overeating, which can start between six months and six years

They might also have symptoms of many illnesses but not realise it, because they can put up with a lot of pain.

Children with Prader-Willi syndrome have strengths in reading, art and vocabulary.

Diagnosis and testing for Prader-Willi syndrome

Health professionals diagnose Prader-Willi syndrome by looking at the physical and other signs listed above, and by using genetic testing.

Early intervention services for children with Prader-Willi syndrome

Although there’s no cure for Prader-Willi syndrome, early intervention can make a difference. Through early intervention services, you can work with health professionals to treat your child’s symptoms, support your child, improve outcomes for your child and help him reach his full potential.

Together, you and your team can choose treatment and therapy options to best help your child.

Services and support for children with Prader-Willi syndrome

Getting information
Learning as much as possible from your specialists will help. It’s OK to ask lots of questions.

Many services and supports can help your child with Prader-Willi syndrome achieve her potential. But finding your way through the disability services system can be tricky. Our Disability Services Pathfinder can help.

Financial support
If you live in a National Disability Insurance Scheme (NDIS) trial area and your child has a confirmed diagnosis of Prader-Willi syndrome, your child can get support under the NDIS. The NDIS helps you get services and support in your community, and gives you funding for things like early intervention therapies or educational support.

Looking after yourself and your family

If your child has Prader-Willi syndrome, it’s easy to get caught up in looking after her. But it’s important to look after your own wellbeing too. If you’re physically and mentally well, you’ll be better able to care for your child.